Associated Papers
Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature.
Parisi L et al.
Haematologica, 2025
40438980 (PubMed )
Supplement: 2025_287393_PARISI_SUPPL.pdf
Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.
Kothari SS et al.
Bmc Medical Genomics, 2024
Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation.
Shi D et al.
Iscience, 2024
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Bergmann AK et al.
Pediatric Blood & Cancer, 2010
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E et al.
Journal of Medical Genetics, 2007
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